Bahmad Hisham F, Thiravialingam Aran, Sriganeshan Karthik, Gonzalez Jeffrey, Alvarez Veronica, Ocejo Stephanie, Abreu Alvaro R, Avellan Rima, Arzola Alejandro H, Hachem Sana, Poppiti Robert
The Arkadi M. Rywlin M.D. Department of Pathology and Laboratory Medicine, Mount Sinai Medical Center, Miami Beach, FL 33140, USA.
Herbert Wertheim College of Medicine, Florida International University, Miami, FL 33199, USA.
Curr Issues Mol Biol. 2023 Dec 15;45(12):10131-10158. doi: 10.3390/cimb45120633.
The embryonic development of neural crest cells and subsequent tissue differentiation are intricately regulated by specific transcription factors. Among these, , a member of the gene family, stands out. Located on chromosome 22q13, the gene encodes a transcription factor crucial for the differentiation, migration, and maintenance of tissues derived from neural crest cells. It plays a pivotal role in developing various tissues, including the central and peripheral nervous systems, melanocytes, chondrocytes, and odontoblasts. Mutations in have been associated with congenital disorders such as Waardenburg-Shah Syndrome, PCWH syndrome, and Kallman syndrome, underscoring its clinical significance. Furthermore, SOX10 is implicated in neural and neuroectodermal tumors, such as melanoma, malignant peripheral nerve sheath tumors (MPNSTs), and schwannomas, influencing processes like proliferation, migration, and differentiation. In mesenchymal tumors, SOX10 expression serves as a valuable marker for distinguishing between different tumor types. Additionally, SOX10 has been identified in various epithelial neoplasms, including breast, ovarian, salivary gland, nasopharyngeal, and bladder cancers, presenting itself as a potential diagnostic and prognostic marker. However, despite these associations, further research is imperative to elucidate its precise role in these malignancies.
神经嵴细胞的胚胎发育及随后的组织分化受到特定转录因子的复杂调控。其中, 基因家族的成员 脱颖而出。 基因位于22号染色体q13区域,编码一种对源自神经嵴细胞的组织的分化、迁移和维持至关重要的转录因子。它在包括中枢和外周神经系统、黑素细胞、软骨细胞和成牙本质细胞在内的各种组织发育中起关键作用。 的突变与诸如瓦登伯革-沙阿综合征、PCWH综合征和卡尔曼综合征等先天性疾病相关,突显了其临床意义。此外,SOX10与神经和神经外胚层肿瘤有关,如黑色素瘤、恶性外周神经鞘瘤(MPNSTs)和神经鞘瘤,影响增殖、迁移和分化等过程。在间充质肿瘤中,SOX10表达是区分不同肿瘤类型的重要标志物。此外,SOX10已在包括乳腺癌、卵巢癌、唾液腺癌、鼻咽癌和膀胱癌在内的各种上皮性肿瘤中被发现,是一种潜在的诊断和预后标志物。然而,尽管有这些关联,仍需进一步研究以阐明其在这些恶性肿瘤中的精确作用。